Newborn Screening for Sickle Cell Disease in St. Vincent and the Grenadines: Results of a Pilot Newborn Screening Program

Abstract

Objective: To pilot a newborn screening program for sickle cell disease (SCD) in St. Vincent and the Grenadines using a novel partnership method to determine the feasibility of a universal newborn screening program in this country. Methods: A prospective study of mothers and their newborns was conducted between January 1, 2015, and November 1, 2015, at the country’s main hospital. Mothers of infants born at this hospital were offered screening for SCD for their infants. If accepted, the newborn’s heel-stick blood specimen was obtained and mailed to the South Carolina Department of Health and Environmental Control Newborn Screening Laboratory for testing. Samples were analyzed for variant hemoglobins using standard laboratory techniques and results were communicated to local physicians. Feasibility was determined by a benchmark of having >50% of SCD patients receive the diagnosis and initiate disease-specific care by 3 months of age. Descriptive statistics were completed using SAS 9.4. Results: There were 1147 newborn infants screened for SCD. Of these, 123 (10.7%) had results indicative of sickle trait and 3 patients (0.3%) were diagnosed with SCD: 1 with HbSS and 2 with HbSC. All 3 patients with SCD received treatment before 3 months of age. Conclusions: A newborn screening program is feasible in this population when partnered with an established newborn screening laboratory.

Systematic Screening of Neonatal Sickle Cell Disease with HemoTypeSC<sup>TM</sup> Kit-Test: Case Study and Literature Review

“…In this regard, Nanjela [24] emphasizes that venous blood collection for neonatal screening is not perfect, especially for the testing of patients with SCD. The concept that capillary blood, obtained by stinging on the heel or finger and transferred to a filter paper, is the best method to use for detecting metabolic diseases in large populations of newborns, was introduced in Scotland by Guthrie and Susie since 1963 [12]. As a result, newborn blood samples have been regularly collected in many countries to detect many disorders, including SCD, which makes HemoTypeSC TM the best "point of care" test for neonatal screening in poor populations.…”

“…There is a consensus that early diagnosis of SCD in neonates is necessary for initial management [4] [5] [8] [11]. In many resource-rich areas, universal neonatal screening programs associated with prophylactic interventions have significantly reduced SCD morbidity and mortality in the first 20 years of patients' life [4] [5] [12] [13] [14]. However, in sub-Saharan Africa and central India, where more than 90% of sickle-cell births occur, neonatal screening programs are not systematically applied, if at all, mainly because of the cost and logistical burden of laboratory diagnostic tests [11] [13].…”

Newborn Screening for Sickle Cell Disease in the Caribbean: An Update of the Present Situation and of the Disease Prevalence

“…Pilot screening projects in Grenada [13], St Vincent and the Grenadines [17], and Haiti [18], funded by CAREST, the Medical University of South Carolina (Charleston, SC, USA), and University Hospitals Medical Center (Cleveland, OH, USA), respectively, were not sustained once project funding ended. Local policy makers were not able to identify funding and human resources for continued screening.…”

Multispectral imaging for MicroChip electrophoresis enables point-of-care newborn hemoglobin variant screening

“…Newborn infant, or neonate, is a child under 28 days of age defined by the WHO [ 9 ]. Effective management of SCD involves genetic counseling, early diagnosis through newborn screening and comprehensive care [ 10 , 11 , 12 , 13 ]. SCD newborn screening performed in centralized laboratories has dramatically reduced SCD mortality in resource-rich countries [ 5 , 14 ].…”